Uncertain diagnosis leads doctor to dig further

Carlos I. Smith, ACP Member, from the Medical Center at Ocean Reef, Key Largo, Fla.,
submitted a case of abdominal pain. The patient was a 66-year-old woman who had been
seen only once a year for checkups. She had a history of impaired glucose tolerance
and borderline hypertension in the setting of central obesity, but was taking no medications.
The patient reported she had never smoked cigarettes and drank two glasses of wine
twice a week. She described the pain as periumbilical with radiation to the back.
It had been present constantly for several weeks, waxing and waning in intensity.
There was no precipitant and there were no other associated symptoms.

“We spent quite a bit of time talking about her abdominal discomfort,”
Dr. Smith recalled. “There was no clear diagnosis after a detailed history
and complete review of systems. I wasn't sure what it was.” On physical examination,
the patient had mild discomfort on palpation of the periumbilical region without a
definite mass. “She was very concerned about the pain,” Dr. Smith said.

The new onset of periumbilical discomfort, the radiation of pain to the back, and
the persistence of pain over several weeks prompted Dr. Smith to order laboratory
tests, including liver function tests, amylase and lipase. Her blood tests were all
normal.

Dr. Smith started as a hospitalist but has practiced general internal medicine for
the past three years. One of the most difficult challenges in practicing internal
medicine is to avoid missing a serious diagnosis. Of course, most patients who present
with vague abdominal discomfort will not have a significant illness. The challenge
is to decide when to order expensive and/or invasive testing. Several features of
this case were of concern, including radiation of the pain to the back, persistence
over several weeks, the patient's own concern and the lack of an obvious explanation
for the symptom. In cases like this, a physician must exercise clinical judgment.

Dr. Smith ordered a CT scan of the liver that showed an unexpected finding: many target lesions, about 1 cm, consistent
with metastatic cancer. He reviewed the films with the radiologist who had read the
scan and confirmed that this was most consistent with metastatic cancer. Dr. Smith
proceeded with a more extensive evaluation looking for a primary malignancy. Mammography,
colonoscopy and chest X-ray were all negative. Tumor markers, including CEA, CA125
and alpha-fetoprotein, were also all within normal limits.

Dr. Smith then sent the patient for a CT-guided liver biopsy. The pathologist read
the results as steatosis. Dr. Smith told us, “I thought for sure the radiologist
had missed it.” He spoke directly with the radiologist, who felt confident
that he had been within the lesion but agreed to do a second biopsy. A second biopsy
was performed, and again the pathology report was steatosis. Dr. Smith reviewed the
biopsy slides with the pathologist but there was no indication of malignancy. Despite
the apparent certainty on imaging, Dr. Smith began to rethink the diagnosis.

In past columns, we have discussed confirmation bias. This is the tendency to remain
fixed on an initial diagnosis and discount subsequent contrary data. Dr. Smith avoided
confirmation bias. “At this point, I started to doubt the diagnosis of cancer,”
he said, “but what was it?”

Over the ensuing weeks, the patient reported that her abdominal discomfort had resolved
and she felt entirely well. Yet there was no diagnosis to account for the findings
on CT scan, and this uncertainty was distressing to both the patient and Dr. Smith.
The patient planned to visit her daughter in New York City and requested a second
opinion while there, which Dr. Smith encouraged. The patient went to Memorial Sloan-Kettering
Cancer Center, where an MRI scan confirmed the lesions in the liver. The pathology
was reviewed and no malignancy was seen. The diagnosis remained unclear. Yet a diagnosis
of cancer could not be completely excluded.

The recommended course of action was serial imaging. A follow-up MRI scan at Memorial
Sloan-Kettering six months after the onset of symptoms showed no change in the multiple
target lesions. The patient continued to feel well.

“At this point, I became convinced that it was not cancer,” Dr. Smith
said. The patient remained concerned that she had no diagnosis and was referred to
a university hospital in Florida where a gastroenterologist told her that, despite
her statement that she only drank modestly, she had alcoholic liver disease; he suggested
a referral to Alcoholics Anonymous. “The patient was not happy with the encounter,”
Dr. Smith said.

“Initially, cancer was my overriding concern,” Dr. Smith said, “but
the diagnosis is still uncertain. At this point, my assumption is that this is an
atypical radiological presentation of hepatic steatosis. I apologized to her about
the incorrect diagnosis. It initially seemed almost certain that this was metastatic
cancer, but my working diagnosis was wrong,” Dr. Smith said. The patient replied
that no apology was needed.

Why did Dr. Smith apologize? A physician apology to a patient has become a central
tenet of risk management, an important component of how to deal with a medical error
that has harmed a patient. Here, there was no error.

Dr. Smith reflected on each step he took in this case. “Should I have waited
to order the CT scan?” Dr. Smith asked himself. Yet in the end, he probably
would not have done things differently. Dr. Smith had communicated his clinical thinking
to the patient throughout the process, explaining the rationale for each blood test
and scan, as well as the liver biopsies and referrals to other specialists. There
were no physical damages related to the incorrect diagnosis and no concern about a
lawsuit.

But Dr. Smith recognized the emotional fallout of telling a person that she likely
had metastatic cancer. By apologizing, he demonstrated genuine empathy, putting himself
in the patient's place as she spent months pondering that she might soon die. In this
setting, an apology strengthens the bond between doctor and patient. Part of mindful
medicine is to be aware of the emotional consequences of your thinking.

Jerome Groopman, FACP, a hematologist/oncologist and author of the bestselling How
Doctors Think, and endocrinologist Pamela Hartzband, FACP, are on the Harvard Medical
School faculty. They also serve as staff physicians at Boston's Beth Israel Deaconess
Medical Center, where Dr. Hartzband co-directs the internal medicine subinternship
program.

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ACP Hospitalist provides news and information for hospitalists, covering the major issues in the field. All published material, which is covered by copyright, represents the views of the contributor and does not reflect the opinion of the American College of Physicians or any other institution unless clearly stated.